Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism

Introduction: Complete androgen insensitivity (CAIS) in 65–95% cases is caused by pathogenic allelic variants (mutations) in the gene encoding androgen receptor (AR gene) and is characterized by female phenotype development with a male karyotype (46, XY). Patients are usually diagnosed during pubert...

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Publicat a:Front Endocrinol (Lausanne)
Autors principals: Konrade, Ilze, Zavorikina, Julija, Fridvalde, Aija, Rots, Dmitrijs, Kalere, Ieva, Strumfa, Ilze, Dambrova, Maija, Gailite, Linda
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Endocrinology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6345100/
https://ncbi.nlm.nih.gov/pubmed/30705665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2018.00795
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